rs587779351
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PS1PM2PP3_StrongPP5
The NM_003401.5(XRCC4):c.127T>A(p.Trp43Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,594 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Pathogenicin Lovd.
Frequency
Consequence
NM_003401.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
XRCC4 | NM_003401.5 | c.127T>A | p.Trp43Arg | missense_variant | 2/8 | ENST00000396027.9 | NP_003392.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
XRCC4 | ENST00000396027.9 | c.127T>A | p.Trp43Arg | missense_variant | 2/8 | 5 | NM_003401.5 | ENSP00000379344 | A1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460594Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726576
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Short stature, microcephaly, and endocrine dysfunction Pathogenic:1
Pathogenic, no assertion criteria provided | clinical testing | Génétique des Maladies du Développement, Hospices Civils de Lyon | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.